Cardiac anomalies in microtia patients at a tertiary pediatric care center

Int J Pediatr Otorhinolaryngol. 2020 Sep;136:110211. doi: 10.1016/j.ijporl.2020.110211. Epub 2020 Jun 23.


Objective: Microtia is a congenital condition that is known to be associated with cardiac abnormalities. Current guidelines suggest performing an echocardiogram or other cardiac work-up in the presence of ear anomalies with dysmorphic features but not isolated microtia. We report on the prevalence and characteristics of cardiac anomalies among microtia patients at a tertiary pediatric center.

Methods: A review of 428 children with microtia was conducted. Patients were identified as syndromic or non-syndromic. Data included echocardiograms performed, anomalies detected, need for cardiology follow-up, and need for surgical intervention.

Results: In the 428 patients with microtia, 77 patients (18%) were syndromic, the most common being Goldenhar (26%). 23.5% (101) of patients overall had documented echocardiograms, with structural anomalies found in 75.9% of patients screened and 18.5% overall, including disorders ranging from minor septal defects to Tetralogy of Fallot. The most common anomalies were left-right shunts in 77.2% of anomalies. Syndromic patients had a greater percentage of echocardiograms performed, cardiac anomalies, and cardiology follow-up compared to non-syndromic microtia patients.

Conclusion: Children with microtia are at significant risk for cardiac abnormalities. Many patients with lesions required treatment and cardiology follow-up. Anomalies may have been missed in those who did not receive an echocardiogram. Given the risk of cardiac anomalies going unnoticed at the time of birth, we recommend a thorough cardiac physical exam for each microtia patient and the consideration of screening echocardiogram in syndromic children born with microtia.

Keywords: Cardiac anomaly; Congenital heart disease; Echocardiogram; Genetic syndrome; Microtia.

MeSH terms

  • Abnormalities, Multiple
  • Child
  • Congenital Microtia / complications*
  • Congenital Microtia / epidemiology
  • Echocardiography
  • Female
  • Genetic Diseases, X-Linked
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / epidemiology*
  • Humans
  • Ichthyosiform Erythroderma, Congenital
  • Limb Deformities, Congenital
  • Male
  • Prevalence
  • Retrospective Studies
  • Tertiary Care Centers

Supplementary concepts

  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects